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FLASH GENE
Symbol GPX1 contributors: mct - updated : 09-10-2013
HGNC name glutathione peroxidase 1
HGNC id 4553
Corresponding disease
GPX1 hemolytic anemia
Location 3p21.31      Physical location : 49.394.610 - 49.395.791
Synonym symbol(s) GSHPX1, GPXD
EC.number 1.11.1.9
DNA
TYPE functioning gene
STRUCTURE 1.18 kb     2 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site   transcription factor
text structure AP-2 regulatory region in the promoter of the GPX1 gene
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 splicing 921 - 203 - 2003 12893824
- splicing 1200 - 98 - 2003 12893824
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart   highly
 vessel   highly
Digestivesalivary gland   highly
Endocrineparathyroid   highly
Lymphoid/Immunespleen   moderately
 thymus   predominantly
Reproductivefemale systemovary  highly
 female systemuteruscervix moderately
 male systemprostate  moderately
Skin/Tegumentskin   highly
Urinarykidney   moderately
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose  highly
Nervousperipherous   
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a polyalanine sequence polymorphism in the N-terminal region
  • includes three alleles with five, six or seven alanine (ALA) repeats in this sequence
  • mono polymer homomer , tetramer
    HOMOLOGY
    interspecies ortholog to rattus Gpx1
    ortholog to murine Gpx1
    Homologene
    FAMILY
  • glutathione peroxidase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • free radical detoxification
  • catabolic pathway of activated oxygen species
  • involved in the protection of the hemoglobin in erythrocytes from oxidative breakdown
  • implicated as a mechanism of resistance against oxygen free radicals
  • plays an important role in cellular defense by converting hydrogen peroxide and organic hydroperoxides to nonreactive products
  • likely a major role for GPX1 in cardiac dysfunction in ANGPT2-dependent hypertension
  • modulates potentially the endothelial cell response to LPS, in part, by altering CD14-mediated effects
  • selenium-containing protein, associated with cancer risk and development
  • regulates leukocyte-endothelial cell interactions in the cerebral microvasculature, but that this is affected by the nature of the inflammatory insult
  • GPX5 protein, and the epithelial proteins GPX1, GPX3, and cellular GPX4, all functioning in the mammalian epididymis at different stages of the sperm epididymal journey, and in different epididymis compartments
  • anti-oxidant enzyme that may protect lungs from oxidative damage
  • primes potentially pro-inflammatory cytokine production after LPS challenge
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS detoxification
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule other,
  • selenium (Se)
  • protein
  • SELENBP1 and GPX1 form a physical association (interaction between two distinct selenium-containing proteins that may enhance the understanding of the mechanisms by which selenium and selenoproteins affect carcinogenesis)
  • GPX1 is regulated by TFAP2C through an AP-2 regulatory region in the promoter of the GPX1 gene
  • cell & other
    REGULATION
    inhibited by inhibited in lung cancer with 3p loss (affect prognosis of cancer)
    ASSOCIATED DISORDERS
    corresponding disease(s) GPX1
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   LOH    
    in a significant percentage of colorectal cancer
    constitutional       loss of function
    augments proinflammatory cytokine-induced redox signaling and endothelial cell activation
    constitutional     --low  
    significant reductions in expression of GPX1, GPX3, GPX4 in placentae from women with preeclampsia
    Susceptibility
  • to breast cancer
  • to several types of malignancies
  • to type 2 diabetes
  • to Keshan disease (endemic dilated cardiomyopathy)
  • to thoracic aortic aneurysm in hypertensive patients
  • Variant & Polymorphism other
  • allele with five ALA repeats is significantly associated with breast cancer risk
  • the C-->T (Pro198Leu) polymorphism is protective against thoracic aortic aneurysm in hypertensive patients
  • a single nucleotide polymorphism (Pro198Leu) associated with selenium deficiency as well as impaired GPX1 activity, which may, in turn, increase the incidence of KD (Keshan disease)
  • variant associated with cancer risk for several types of malignancies
  • GPX1 variants might contribute to the development of diabetes type 2
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    miscelleaneousvascular 
    may represent a potential therapeutic target for enhancement of regenerative capacity of endothelial progenitor cells (EPCs) in old subjects
    miscelleaneousvascular 
    overexpressing GPX1 in endothelial cells is able to change the basal mRNA and protein BAX levels without affecting those of TP53 and BCL2 (useful to antiatherogenic therapies which use antioxidants with the aim of protecting the vascular wall against ox
    ANIMAL & CELL MODELS
  • Gpx1(-/-) mice displayed significant reductions in rolling and adhesion associated with severe blood flow restriction